Article
A follow-up study in a Taiwanese family with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome.
Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Jul 2007
Li Jie-Yuan, Hsieh Rong-Hong, Peng Nan-Jing, Lai Ping-Hong, Lee Cheng-Feng, Lo Yuk-Keung, Wei Yau-Huei
Abstract excerpt
BACKGROUND/PURPOSE: MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) syndrome is often associated with A3243G point mutation of mitochondrial DNA (mtDNA). We previously described a MELAS family characterized by harboring an additional approximately 260 bp tandem duplication in the D-loop and a novel C3093G point mutation in the 16S rRNA gene of mtDNA in the proband. We...
Topics
- Adult
- Child
- DNA, Mitochondrial
- Female
- Follow-Up Studies
- Humans
- MELAS Syndrome
- Male
- Middle Aged
- Mutation
- Taiwan